Rare Disease Day presented by: RareDiseaseDay is a global campaign to raise awareness about rare diseases and the importance of early and accurate diagnosis. Many rare diseases are genetic in nature, which means that genetic testing is an important tool in the diagnostic odyssey. Early and accurate diagnosis of rare diseases is crucial for improving patient outcomes. By identifying rare disease risks, patients and their healthcare providers can develop personalized treatment plans and take proactive measures to manage symptoms and improve quality of life.

Intelliseq is proud to support #RAREDISEASEDAY and the important work being done to improve diagnosis and treatment for rare diseases. That’s why we’re offering two free whole exome sequencing (WES) analyses or one whole genome sequencing (WGS) analysis through our IntelliseqFlow platform. Our IntelliseqFlow platform makes genetic testing accessible and user-friendly. With just a few clicks, you can upload your genetic data in .fastq or .vcf file formats and receive comprehensive reports on your risk of hereditary diseases.

Our workflows: WES/WGS hereditary disorders ACMG report (input: .fastq / .vcf) identify pathogenic variants (according to the ACMG classification) with the ready-to-use or custom gene panels and generate a full clinical report.

Here is our sample report (click to see full report).

Analysis of SNVs (ang. Single Nucleotide Variants; Single Nucleotide Polymorphism) and INDELs (ang. short INsertions and DELetions) in selected genes (ready-to-use or custom gene panels). The raw reads are mapped to and analyzed with the human reference genome GRCh38. Variants are called using GATK best practices. The identified variants are assessed using an annotation pipeline that implements ACMG recommendations. Databases used for annotation include: gnomAD, 1000 Genomes, ClinVar and HPO.

We invite diagnostic laboratories, hospitals, and individuals that have their own raw DNA data samples (in .fastq or .vcf files format) to try our IntelliseqFlow solution for free: https://flow.intelliseq.com/